Clinical Indication ID & Name
Von Hippel Lindau syndrome
Test Group
Inherited cancer
Test code
R225.1
Test name
N/A
Target genes
VHL
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
1. Testing of individual (proband) affected with VHL-related tumours where the individual/family history meets one of the following criteria:
a. Retinal angioma, spinal or endolymphatic sac tumour (<40 years), OR
b. Cerebellar haemangioblastoma (<60 years), OR
c. ≥2 VHL-related tumours (any age), OR
d. ≥1 VHL-related tumour and a first degree relative with ≥1 VHL-related tumour (where one of the tumours is retinal angioma / hemangioblastoma)
2. Deceased affected individual (proband) where (i) the individual +/- family history meets one of the above criteria, (ii) appropriate tissue is available (tumour or normal), and (iii) no living affected individual is available for genetic testing
VHL-related tumours comprise: Retinal angioma, Spinal or cerebellar hemangioblastoma, adrenal or extra adrenal pheochromocytoma, Renal cell carcinoma, multiple renal and/or pancreatic cysts, endolymphatic sac tumors, papillary cystadenomas of the epididymis or broad ligament, neuroendocrine tumour of the pancreas
NOTE: The proband's cancer and majority of reported cancers in the family should have been confirmed
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist
MDT with a cancer geneticist present
Test code
R225.2
Test name
N/A
Target genes
VHL
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
1. Testing of individual (proband) affected with VHL-related tumours where the individual/family history meets one of the following criteria:
a. Retinal angioma, spinal or endolymphatic sac tumour (<40 years), OR
b. Cerebellar haemangioblastoma (<60 years), OR
c. ≥2 VHL-related tumours (any age), OR
d. ≥1 VHL-related tumour and a first degree relative with ≥1 VHL-related tumour (where one of the tumours is retinal angioma / hemangioblastoma)
2. Deceased affected individual (proband) where (i) the individual +/- family history meets one of the above criteria, (ii) appropriate tissue is available (tumour or normal), and (iii) no living affected individual is available for genetic testing
VHL-related tumours comprise: Retinal angioma, Spinal or cerebellar hemangioblastoma, adrenal or extra adrenal pheochromocytoma, Renal cell carcinoma, multiple renal and/or pancreatic cysts, endolymphatic sac tumors, papillary cystadenomas of the epididymis or broad ligament, neuroendocrine tumour of the pancreas
NOTE: The proband's cancer and majority of reported cancers in the family should have been confirmed
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist
MDT with a cancer geneticist present
Commissioning group
Specialised
Overlapping idications
n/a
Address for samples/request forms
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old